Search results for "hernia"

The MalaCard for "hernia" has been retired.
Searching MalaCards for entries containing "hernia"

880 hits were found for 'hernia'

# Family MCID Name MIFTS Score
1
P CNG015 Congenital Diaphragmatic Hernia 56 6.947
2
HTS001 Hiatus Hernia 38 5.120
3
DNN002 Donnai-Barrow Syndrome 36 4.533
4
ACR089 Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 7 3.800
5
c DPH016 Diaphragmatic Hernia 3 11 3.791
6
FRY002 Fryns Syndrome 36 3.508
7
GLL032 Galloway-Mowat Syndrome 41 3.464
8
LMB010 Lambert Syndrome 32 2.956
9
MCR090 Microspherophakia with Hernia 4 2.956
10
DND012 Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia 3 2.956
11
ABD010 Abdominal Wall Defect 32 2.573
12
P SHR029 Short Syndrome 49 2.491
13
KNN003 Kennerknecht Vogel Syndrome 20 2.413
14
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 4 2.413
15
ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 2 2.413
16
DPH011 Diaphragmatic Hernia Upper Limb Defects 1 2.413
17
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 1 2.413
18
GRS006 Gershoni-Baruch Syndrome 4 2.400
19
c DH1001 Dih1-Related Congenital Diaphragmatic Hernia 4 2.400
20
HRN002 Hernia of Ovary and Fallopian Tube 4 2.400
21
MRF012 Marfanoid Habitus - Inguinal Hernia - Advanced Bone Age 4 2.400
22
SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3 2.400
23
SHP002 Shprintzen-Goldberg Syndrome 52 1.783
24
P PRS049 Persistent Mullerian Duct Syndrome 42 1.783
25
GST056 Gastrocutaneous Syndrome 13 1.722
26
DSP001 Displacement of Cardia Through Esophageal Hiatus 6 1.722
27
MGR005 Megarbane Syndrome 4 1.686
28
SLB001 Saal Bulas Syndrome 4 1.686
29
P ESP024 Esophagitis 54 0.275
30
P INT070 Intestinal Obstruction 53 0.178
31
HYD005 Hydrocele 43 0.174
32
GST092 Gastroesophageal Reflux 60 0.137
33
P PLM037 Pulmonary Hypertension 85 0.116
34
MCK002 Meckel's Diverticulum 36 0.116
35
CRY002 Cryptorchidism 57 0.113
36
P EHL049 Ehlers-Danlos Syndrome Classical Type 53 0.108
37
PPT001 Peptic Esophagitis 29 0.108
38
OMP004 Omphalocele 43 0.105
39
DDN006 Duodenitis 48 0.100
40
ESP020 Esophageal Atresia 46 0.100
41
APP008 Appendicitis 48 0.097
42
ANR040 Aneurysm 35 0.097
43
ENT001 Enterocele 24 0.091
44
P OBS005 Obesity 94 0.087
45
FCL009 Focal Dermal Hypoplasia 51 0.087
46
AND015 Androgen Insensitivity 69 0.084
47
ART016 Aortic Aneurysm 62 0.084
48
GST009 Gastroschisis 55 0.084
49
P HPT021 Hepatitis 55 0.084
50
GST064 Gastric Outlet Obstruction 33 0.084
51
PSD007 Pseudomyxoma Peritonei 59 0.080
52
P ABD003 Abdominal Aortic Aneurysm 58 0.080
53
CRD001 Cardiac Tamponade 46 0.080
54
PNM008 Pneumothorax 43 0.080
55
PRT036 Peritonitis 61 0.076
56
GST023 Gastric Ulcer 57 0.076
57
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.076
58
BLD045 Bladder Diverticulum 25 0.076
59
P THY032 Thyroiditis 56 0.073
60
P TRT010 Teratoma 50 0.073
61
ART001 Arterial Tortuosity Syndrome 48 0.073
62
P CHR345 Chronic Pain 39 0.073
63
GST007 Gastric Dilatation 23 0.073
64
MRF001 Marfan Syndrome 75 0.068
65
P SMP003 Simpson-Golabi-Behmel Syndrome 58 0.068
66
P LPS002 Liposarcoma 56 0.068
67
P DDN001 Duodenal Ulcer 53 0.068
68
P ADN016 Adenocarcinoma 49 0.068
69
P INF032 Infertility 46 0.068
70
PLM064 Pulmonary Sequestration 28 0.068
71
DPH006 Diaphragmatic Eventration 27 0.068
72
WND002 Wandering Spleen 24 0.068
73
LPM004 Lipoma 56 0.064
74
P CFF001 Coffin-Siris Syndrome 53 0.064
75
VGN023 Vaginitis 51 0.064
76
CMP034 Complete Androgen Insensitivity Syndrome 48 0.064
77
MRB003 Morbid Obesity 52 0.064
78
MLN007 Male Infertility 46 0.064
79
TRC040 Tracheoesophageal Fistula 44 0.064
80
CHL004 Cholelithiasis 40 0.064
81
INT071 Intestinal Perforation 35 0.064
82
c EHL027 Ehlers-Danlos Syndrome, Type Viic 32 0.064
83
TBR010 Tuberculosis 73 0.059
84
MNK001 Menkes Disease 65 0.059
85
P BCK002 Beckwith-Wiedemann Syndrome 61 0.059
86
WLL001 Williams-Beuren Syndrome 58 0.059
87
GSG001 Gas Gangrene 58 0.059
88
P KDN018 Kidney Disease 57 0.059
89
P EHL001 Ehlers-Danlos Syndrome 56 0.059
90
ACR008 Acrocallosal Syndrome 55 0.059
91
DFC004 Deficiency Anemia 54 0.059
92
MCR013 Microphthalmia 52 0.059
93
c MCP009 Mucopolysaccharidosis Ii 51 0.059
94
P MST018 Mesothelioma 51 0.059
95
P ESC003 Escobar Syndrome 50 0.059
96
GRG001 Greig Cephalopolysyndactyly Syndrome 49 0.059
97
P BLN003 Blindness 47 0.059
98
STS002 Situs Inversus 46 0.059
99
END072 Endotheliitis 44 0.059
100
PYL006 Pyloric Stenosis 41 0.059
101
DVR002 Diverticulitis 41 0.059
102
PSD009 Pseudohermaphroditism 41 0.059
103
NSP002 Nasopharyngitis 40 0.059
104
FSC004 Fasciitis 39 0.059
105
SCH068 Schwartz-Jampel Syndrome, Type 1 34 0.059
106
CRB009 Cerebritis 33 0.059
107
c ACH035 Achondrogenesis Ib 29 0.059
108
15Q002 15q24 Microdeletion Syndrome 24 0.059
109
DDN009 Duodenal Obstruction 22 0.059
110
CYS001 Cystic Fibrosis 92 0.054
111
P OST005 Osteogenesis Imperfecta 77 0.054
112
LVR012 Liver Cirrhosis 66 0.054
113
c MCP003 Mucopolysaccharidosis Vii 64 0.054
114
P VLC001 Velocardiofacial Syndrome 60 0.054
115
P PNC044 Pancreatitis 59 0.054
116
P CRN015 Cornelia De Lange Syndrome 57 0.054
117
P HYP097 Hyperekplexia 57 0.054
118
WGR001 Wagr Syndrome 57 0.054
119
ARS001 Aarskog-Scott Syndrome 56 0.054
120
OCC006 Occipital Horn Syndrome 55 0.054
121
P PLY014 Polycystic Kidney Disease 53 0.054
122
CHL067 Cholecystitis 53 0.054
123
OCL005 Oculocerebrorenal Syndrome 51 0.054
124
WLF002 Wolf-Hirschhorn Syndrome 49 0.054
125
IRN001 Iron Deficiency Anemia 48 0.054
126
c EHL032 Ehlers-Danlos Syndrome, Type Viib 49 0.054
127
P CMP008 Compartment Syndrome 47 0.054
128
c EHL057 Ehlers-Danlos Syndrome, Type Iv 48 0.054
129
DYS073 Dysphagia 45 0.054
130
IMP002 Imperforate Anus 44 0.054
131
VSC044 Visceral Myopathy 43 0.054
132
OBS001 Obstructive Jaundice 42 0.054
133
P SLD010 Sialidosis, Type I 43 0.054
134
ABD004 Abdominal Tuberculosis 39 0.054
135
NCR007 Necrotizing Fasciitis 38 0.054
136
SYN036 Syncope 37 0.054
137
c MCP012 Mucopolysaccharidosis Ih 37 0.054
138
c SPN121 Spondylocostal Dysostosis 1 34 0.054
139
CRN248 Craniofrontonasal Dysplasia 35 0.054
140
c RBN009 Robinow Syndrome, Autosomal Recessive 32 0.054
141
P PRT096 Peritoneal Mesothelioma 32 0.054
142
c CTS034 Cutis Laxa, Autosomal Recessive Type 1 32 0.054
143
INT052 Intestinal Volvulus 27 0.054
144
PLL008 Pallister-Killian Syndrome 25 0.054
145
c RBN011 Robinow Syndrome, Autosomal Dominant 24 0.054
146
RTR012 Retroperitoneal Liposarcoma 19 0.054
147
SCR025 Scarf Syndrome 20 0.054
148
MLL004 Mallory-Weiss Syndrome 19 0.054
149
c EHL016 Ehlers-Danlos Syndrome Type 5 18 0.054
150
NSP010 Nasopharyngeal Teratoma 17 0.054
151
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 13 0.054
152
TTR001 Tetralogy of Fallot 67 0.048
153
P ANG001 Angelman Syndrome 66 0.048
154
PTR006 Peters Anomaly 65 0.048
155
DNY001 Denys-Drash Syndrome 61 0.048
156
c MCP024 Mucopolysaccharidosis Type Vi 60 0.048
157
LMY002 Leiomyoma 59 0.048
158
P DST002 Distal Arthrogryposis 58 0.048
159
ANN002 Anencephaly 57 0.048
160
VCT001 Vacterl Association 55 0.048
161
CHR103 Charge Syndrome 54 0.048
162
INT051 Intussusception 53 0.048
163
ACH005 Achalasia 53 0.048
164
EDW001 Edwards Syndrome 52 0.048
165
CRD002 Cri-Du-Chat Syndrome 50 0.048
166
P CTS001 Cutis Laxa 50 0.048
167
c MLG002 Malignant Peritoneal Mesothelioma 50 0.048
168
P WVR001 Weaver Syndrome 49 0.048
169
PRC012 Pericardial Effusion 49 0.048
170
P PRT013 Portal Hypertension 49 0.048
171
URT001 Urethritis 48 0.048
172
P MNT147 Mental Retardation 46 0.048
173
PLY012 Polyhydramnios 46 0.048
174
P HYD002 Hydronephrosis 45 0.048
175
MCN001 Mucinous Adenocarcinoma 45 0.048
176
P SPN183 Spontaneous Pneumothorax 45 0.048
177
ASP002 Aspartylglucosaminuria 44 0.048
178
P HYP009 Hypertrophic Pyloric Stenosis 43 0.048
179
c EHL055 Ehlers-Danlos Syndrome, Type Iii 43 0.048
180
ACT055 Actinomycosis 40 0.048
181
HRM002 Hermaphroditism 40 0.048
182
c EHL054 Ehlers-Danlos Syndrome, Type Vi 40 0.048
183
MDS022 Mediastinitis 39 0.048
184
AGN013 Agenesis of the Corpus Callosum 38 0.048
185
c MCL062 Mucolipidosis Ii Alpha/beta 39 0.048
186
EMN001 Emanuel Syndrome 36 0.048
187
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 28 0.048
188
CHR518 Chromosome 9p Deletion Syndrome 28 0.048
189
MCH011 Meacham Syndrome 27 0.048
190
2Q3002 2q37 Microdeletion Syndrome 26 0.048
191
c OMD001 Omodysplasia 1 26 0.048
192
CHR224 Chromosome 1q Duplication 24 0.048
193
CHR266 Chromosome 8p23.1 Deletion 21 0.048
194
URC005 Urachal Cyst 21 0.048
195
LWR007 Lowry Maclean Syndrome 19 0.048
196
SPL017 Splenogonadal Fusion Limb Defects Micrognatia 16 0.048
197
CPR003 Cooper-Jabs Syndrome 12 0.048
198
GST019 Gastrointestinal Stromal Tumor 74 0.042
199
SMT004 Smith-Lemli-Opitz Syndrome 74 0.042
200
NRL016 Neural Tube Defects 78 0.042
201
P HLP001 Holoprosencephaly 65 0.042
202
APR006 Apert Syndrome 66 0.042
203
P PNM007 Pneumonia 64 0.042
204
P CNG401 Congenital Heart Disease 62 0.042
205
P RSP003 Respiratory Failure 62 0.042
206
LPR018 Leprechaunism 62 0.042
207
P NPH012 Nephrotic Syndrome 60 0.042
208
P PLM036 Pulmonary Fibrosis 64 0.042
209
P LRY019 Laryngitis 56 0.042
210
SMT008 Smith-Magenis Syndrome 56 0.042
211
CLT003 Colitis 54 0.042
212
P ACR001 Aicardi-Goutieres Syndrome 54 0.042
213
P PTT014 Pitt-Hopkins Syndrome 54 0.042
214
OST044 Osteoglophonic Dysplasia 51 0.042
215
PST041 Posterior Urethral Valves 50 0.042
216
PTN002 Patent Ductus Arteriosus 49 0.042
217
c MCP026 Mucopolysaccharidosis Type Iiib 50 0.042
218
c MCP037 Mucopolysaccharidosis is 50 0.042
219
P DGR001 Digeorge Syndrome 49 0.042
220
P MCR010 Microcephaly 49 0.042
221
P PNC045 Pancreatic Agenesis 49 0.042
222
ANR004 Anuria 48 0.042
223
RTN017 Retinal Detachment 48 0.042
224
P INT030 Intracranial Aneurysm 48 0.042
225
ULN003 Ulnar-Mammary Syndrome 47 0.042
226
PTS001 Patau Syndrome 46 0.042
227
RTN023 Retinitis 44 0.042
228
P SCL018 Scoliosis 45 0.042
229
P ACH011 Achondrogenesis 44 0.042
230
VRC001 Varicocele 42 0.042
231
TRN044 Transposition of the Great Arteries 41 0.042
232
c MNN025 Mannosidosis, Alpha-, Types I and Ii 41 0.042
233
AZS001 Azoospermia 41 0.042
234
P MLT134 Multiple Pterygium Syndrome, Lethal Type 41 0.042
235
CHY006 Chylous Ascites 40 0.042
236
LYM021 Lymphadenitis 39 0.042
237
P MCR260 Microphthalmia, Syndromic 7 40 0.042
238
MTB004 Metabolic Acidosis 38 0.042
239
DYS018 Dysostosis 38 0.042
240
ILS001 Ileus 38 0.042
241
HYP622 Hypertrichotic Osteochondrodysplasia 39 0.042
242
EXS007 Exstrophy of the Bladder 38 0.042
243
GPS001 Gapo Syndrome 37 0.042
244
c ACH033 Achondrogenesis, Type Ia 38 0.042
245
P DBR002 De Barsy Syndrome 35 0.042
246
P KLF001 Kleefstra Syndrome 35 0.042
247
DDN004 Duodenogastric Reflux 34 0.042
248
P MNN007 Meningocele 34 0.042
249
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 34 0.042
250
UTR039 Uterine Fibroid 34 0.042
251
c CTS008 Cutis Laxa, Autosomal Dominant 33 0.042
252
PRL032 Perlman Syndrome 34 0.042
253
MGS001 Megaesophagus 33 0.042
254
SPL006 Splenic Infarction 32 0.042
255
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 31 0.042
256
PNT005 Pentalogy of Cantrell 30 0.042
257
48X003 48,xxyy Syndrome 29 0.042
258
c MCP036 Mucopolysaccharidosis Ih/s 29 0.042
259
ABL001 Ablepharon Macrostomia Syndrome 30 0.042
260
LTR009 Lateral Meningocele Syndrome 30 0.042
261
NNT039 Neonatal Marfan Syndrome 28 0.042
262
BHR002 Bohring-Opitz Syndrome 28 0.042
263
MCH008 Michelin Tire Baby Syndrome 28 0.042
264
c CRN139 Cornelia De Lange Syndrome 1 26 0.042
265
RTS001 Ritscher-Schinzel Syndrome 27 0.042
266
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 27 0.042
267
INN003 Iniencephaly 27 0.042
268
16P002 16p11.2 Deletion Syndrome 26 0.042
269
TRS012 Trisomy 22 25 0.042
270
TRL003 Toriello Carey Syndrome 26 0.042
271
17Q004 17q12 Microdeletion Syndrome 24 0.042
272
c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 24 0.042
273
c HTR007 Heterotopia, Periventricular, Ed Variant 22 0.042
274
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 22 0.042
275
BDS002 Bod Syndrome 22 0.042
276
PNC092 Pancreatic Agenesis and Congenital Heart Defects 21 0.042
277
AXL004 Axial Mesodermal Dysplasia Spectrum 21 0.042
278
PNM003 Pneumatosis Cystoides Intestinalis 21 0.042
279
CHR229 Chromosome 20p Duplication 21 0.042
280
TLH001 Tel Hashomer Camptodactyly Syndrome 20 0.042
281
KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 18 0.042
282
DST041 Distal Monosomy 3p 18 0.042
283
c OPT050 Opitz Gbbb Syndrome, Type Ii 17 0.042
284
FML277 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement 16 0.042
285
48X002 48,xxxy Syndrome 16 0.042
286
CHL076 Chilaiditi Syndrome 15 0.042
287
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 15 0.042
288
ESP029 Esophageal Atresia/tracheoesophageal Fistula 15 0.042
289
SND005 Sandifer Syndrome 14 0.042
290
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 14 0.042
291
CRN224 Craniofaciofrontodigital Syndrome 14 0.042
292
DST071 Distal Monosomy 19p13.3 13 0.042
293
PLM013 Pulmonary Immaturity 12 0.042
294
XLN145 X-Linked Intellectual Disability, Pai Type 11 0.042
295
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 11 0.042
296
HPT023 Hepatocellular Carcinoma 95 0.034
297
P DBT085 Diabetes Mellitus, Insulin-Dependent 83 0.034
298
P ATX030 Ataxia-Telangiectasia 76 0.034
299
INC002 Inclusion Body Myositis 71 0.034
300
c FNC027 Fanconi Anemia, Complementation Group a 68 0.034
301
ESP021 Esophageal Cancer 67 0.034
302
LKC001 Leukocyte Adhesion Deficiency 65 0.034
303
THY028 Thyroid Cancer 63 0.034
304
P MYS005 Myositis 63 0.034
305
MCK007 Muckle-Wells Syndrome 62 0.034
306
PLL001 Pallister-Hall Syndrome 61 0.034
307
ALC007 Alcohol Dependence 60 0.034
308
P END044 Endometriosis 59 0.034
309
PHR003 Pharyngitis 56 0.034
310
P GST044 Gastritis 56 0.034
311
P HYD006 Hydrocephalus 56 0.034
312
ULC004 Ulcerative Colitis 63 0.034
313
ACN002 Acanthosis Nigricans 55 0.034
314
CRB037 Cerebral Palsy 55 0.034
315
P FTL001 Fetal Alcohol Syndrome 54 0.034
316
P HYP040 Hypospadias 54 0.034
317
c MCP004 Mucopolysaccharidosis Iv 54 0.034
318
c GNG001 Gangliosidosis Gm1 54 0.034
319
TTN003 Tetanus 54 0.034
320
P KLP003 Klippel-Feil Syndrome 54 0.034
321
MYL020 Myelomeningocele 54 0.034
322
JCB001 Jacobsen Syndrome 53 0.034
323
ISC004 Ischemia 53 0.034
324
P LMY004 Leiomyosarcoma 53 0.034
325
P AND016 Andersen Syndrome 54 0.034
326
LWS003 Lowe Syndrome 54 0.034
327
P CNJ013 Conjunctivitis 53 0.034
328
P MYP004 Myopathy 53 0.034
329
MYC002 Mycobacterium Avium Complex Disease 51 0.034
330
DWN001 Down Syndrome 51 0.034
331
SPN020 Spondylosis 51 0.034
332
OLG003 Oligohydramnios 51 0.034
333
BLR001 Biliary Atresia 51 0.034
334
P AXN010 Axenfeld-Rieger Syndrome, Type 3 50 0.034
335
P OCL013 Oculodentodigital Dysplasia 49 0.034
336
HYP266 Hypoxia 49 0.034
337
ALV006 Alveolar Capillary Dysplasia 49 0.034
338
AMN001 Amenorrhea 49 0.034
339
P NML001 Nemaline Myopathy 49 0.034
340
c EHL056 Ehlers-Danlos Syndrome, Type I 50 0.034
341
BLD044 Bladder Disease 49 0.034
342
FLT006 Floating-Harbor Syndrome 49 0.034
343
c SPN225 Spondyloarthropathy 1 48 0.034
344
CCH002 Coach Syndrome 48 0.034
345
RDC002 Radiculopathy 47 0.034
346
PRT019 Protein-Losing Enteropathy 47 0.034
347
c MYT021 Myotonic Dystrophy 1 47 0.034
348
ART017 Aortic Disease 46 0.034
349
SWY002 Swyer Syndrome 46 0.034
350
CYS014 Cystadenocarcinoma 46 0.034
351
ACR012 Aicardi Syndrome 46 0.034
352
CNS004 Constipation 45 0.034
353
GST045 Gastroenteritis 45 0.034
354
THR013 Thoracic Outlet Syndrome 45 0.034
355
ISC015 Ischemic Colitis 45 0.034
356
ESN005 Eosinophilic Gastroenteritis 44 0.034
357
KNS001 Kniest Dysplasia 44 0.034
358
P NNT009 Neonatal Diabetes Mellitus 44 0.034
359
MCR103 Microtia 44 0.034
360
PYD002 Pyoderma 43 0.034
361
ALB002 Albinism 43 0.034
362
ORC001 Orchitis 43 0.034
363
P KBK002 Kabuki Syndrome 1 42 0.034
364
SMN007 Seminoma 42 0.034
365
HJD001 Hajdu-Cheney Syndrome 42 0.034
366
P SPN016 Spondylocostal Dysostosis 42 0.034
367
P EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 41 0.034
368
FBR019 Fibromatosis 40 0.034
369
SCR024 Sacrococcygeal Teratoma 40 0.034
370
HMN016 Hemangioendothelioma 39 0.034
371
PHL006 Phelan-Mcdermid Syndrome 39 0.034
372
INC011 Incontinentia Pigmenti, Type Ii 40 0.034
373
P TRC086 Trichohepatoenteric Syndrome 1 39 0.034
374
RVL002 Ruvalcaba Syndrome 39 0.034
375
P OVR046 Ovarian Cyst 39 0.034
376
DDN011 Duodenal Atresia 38 0.034
377
FTL007 Fetal Hydantoin Syndrome 38 0.034
378
HRS011 Horseshoe Kidney 38 0.034
379
PLR007 Pleural Empyema 38 0.034
380
CSY001 C Syndrome 39 0.034
381
BRS090 Breast Reconstruction 38 0.034
382
c ART117 Arthrogryposis, Distal, Type 2b 38 0.034
383
PLR005 Pleuropneumonia 36 0.034
384
MYH012 Myhre Syndrome 36 0.034
385
WRN004 Wrinkly Skin Syndrome 36 0.034
386
SRF006 Surfactant Dysfunction 36 0.034
387
c ORF034 Orofaciodigital Syndrome Vi 36 0.034
388
c MCL016 Mucolipidosis Iii Gamma 35 0.034
389
CRN088 Craniorachischisis 35 0.034
390
TRN060 Truncus Arteriosus 36 0.034
391
NCL006 Nicolaides-Baraitser Syndrome 35 0.034
392
MSC007 Muscle Hypertrophy 35 0.034
393
PLN006 Poland Syndrome 35 0.034
394
c FML297 Familial Thyroid Dyshormonogenesis 35 0.034
395
EXN003 Exencephaly 34 0.034
396
SPR035 Superior Vena Cava Syndrome 34 0.034
397
HM3001 Hemi 3 Syndrome 33 0.034
398
MYC015 Mycobacterium Fortuitum 32 0.034
399
c ART101 Aortic Valve Disease 2 32 0.034
400
ARS002 Arsacs 31 0.034
401
DST056 Distal 22q11.2 Microdeletion Syndrome 31 0.034
402
c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 30 0.034
403
PRL008 Paralytic Ileus 30 0.034
404
HYP007 Hypermobility Syndrome 30 0.034
405
GRD006 Geroderma Osteodysplastica 30 0.034
406
WLS004 Wilson-Turner Syndrome 30 0.034
407
c PNM010 Pneumothorax, Primary Spontaneous 31 0.034
408
ADS002 Adie Syndrome 30 0.034
409
HMC016 Homocystinuria Due to Cbs Deficiency 29 0.034
410
P ATX010 Ataxia Neuropathy Spectrum 29 0.034
411
SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 28 0.034
412
c MCR256 Microphthalmia, Syndromic 9 29 0.034
413
OCL034 Oculocerebrocutaneous Syndrome 29 0.034
414
THY099 Thyroid Hemiagenesis 29 0.034
415
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 28 0.034
416
PRP074 Peripheral Resistance to Thyroid Hormones 28 0.034
417
LYS016 Loeys-Dietz Syndrome, Type 3 28 0.034
418
RGR002 Rieger Syndrome, Type 2 28 0.034
419
UND005 Undifferentiated Pleomorphic Sarcoma 28 0.034
420
SKT001 Sakati Syndrome 27 0.034
421
IMM013 Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome 26 0.034
422
TFT003 Tufting Enteropathy 26 0.034
423
FMR006 Femoral Facial Syndrome 27 0.034
424
EHL044 Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency 26 0.034
425
c CTS019 Cutis Laxa, Ad 25 0.034
426
HNM002 Hinman Syndrome 26 0.034
427
EPD046 Epididymitis 24 0.034
428
OCL033 Oculocerebral Syndrome with Hypopigmentation 25 0.034
429
PRD015 Proud Levine Carpenter Syndrome 24 0.034
430
MSM004 Mesomelia-Synostoses Syndrome 24 0.034
431
1Q2001 1q21.1 Microdeletion 24 0.034
432
PSD046 Pseudotrisomy 13 Syndrome 24 0.034
433
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 22 0.034
434
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 22 0.034
435
IRN002 Iron Metabolism Disease 22 0.034
436
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 22 0.034
437
PLY031 Polydactyly Myopia Syndrome 23 0.034
438
P VCT008 Vacterl with Hydrocephalus 22 0.034
439
ESP025 Esophagus Adenocarcinoma 22 0.034
440
GRL002 Gorlin Chaudhry Moss Syndrome 22 0.034
441
ACR029 Acrofacial Dysostosis Catania Type 22 0.034
442
OPT054 Opitz-Kaveggia Syndrome 20 0.034
443
ACR047 Acrorenal Mandibular Syndrome 20 0.034
444
17P002 17p13.3 Microduplication Syndrome 19 0.034
445
BRC019 Brachycephalofrontonasal Dysplasia 19 0.034
446
INT011 Interstitial Emphysema 19 0.034
447
SPL022 Split Hand Urinary Anomalies Spina Bifida 19 0.034
448
DFN279 Deafness - Intellectual Disability, Martin-Probst Type 18 0.034
449
CTS039 Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 19 0.034
450
CRN083 Craniofacial Dyssynostosis 19 0.034
451
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 18 0.034
452
EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 18 0.034
453
ACH018 Achondroplasia and Severe Combined Immunodeficiency 18 0.034
454
SCH025 Schisis Association 18 0.034
455
TTR012 Tetrasomy 9p 18 0.034
456
JNT001 Joint Laxity, Familial 18 0.034
457
2Q3005 2q31.1 Microdeletion Syndrome 17 0.034
458
CRN190 Craniosynostosis - Fibular Aplasia 18 0.034
459
TBB001 Tibia Absent Polydactyly Arachnoid Cyst 18 0.034
460
LYS014 Loeys-Dietz Syndrome, Type 2 17 0.034
461
MCN018 Mucinous Adenocarcinoma of the Appendix 17 0.034
462
c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 17 0.034
463
AND005 Androgen Insensitivity Syndrome, Mild 17 0.034
464
ISL090 Isolated Thyroid-Stimulating Hormone Deficiency 17 0.034
465
MNT031 Mental Retardation Wolff Type 17 0.034
466
GNT017 Genito Palato Cardiac Syndrome 17 0.034
467
INT090 Intellectual Deficit Buenos-Aires Type 17 0.034
468
BRD023 Bird Headed Dwarfism Montreal Type 16 0.034
469
BLP009 Blepharonasofacial Malformation Syndrome 16 0.034
470
ARH001 Arhinia Choanal Atresia Microphthalmia 16 0.034
471
c CRP022 Carpenter Syndrome 2 15 0.034
472
LMB013 Limb Reduction Defect 15 0.034
473
AZY001 Azygos Continuation of the Inferior Vena Cava 16 0.034
474
ART046 Arthrogryposis Multiplex Congenita Neurogenic Type 16 0.034
475
c MNS011 Monosomy 9q22.3 15 0.034
476
CRN226 Craniosynostosis - Hydrocephalus - Arnold-Chiari Malformation Type I - Radioulnar Synostosis 16 0.034
477
MLT123 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 15 0.034
478
c HYP640 Hypothyroidism Due to Tsh Receptor Mutations 16 0.034
479
BND007 Bone Dysplasia Lethal Holmgren Type 16 0.034
480
DFF002 Diffuse Pulmonary Fibrosis 15 0.034
481
SVR009 Seaver Cassidy Syndrome 16 0.034
482
MNV001 Manouvrier Syndrome 16 0.034
483
CNG062 Congenital Bronchobiliary Fistula 16 0.034
484
SYM004 Say Meyer Syndrome 16 0.034
485
GRX001 Grix Blankenship Peterson Syndrome 15 0.034
486
STR034 Stratton-Garcia-Young Syndrome 15 0.034
487
SPR040 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 15 0.034
488
BRC027 Brachydactyly Mononen Type 15 0.034
489
FLT008 Flat Face - Microstomia - Ear Anomaly 15 0.034
490
PFF004 Pfeiffer Palm Teller Syndrome 15 0.034
491
THY098 Thyroid Ectopia 15 0.034
492
DST045 Distal Trisomy 6p 15 0.034
493
XLN177 X-Linked Intellectual Disability, Cabezas Type 15 0.034
494
KSZ002 Kosztolanyi Syndrome 15 0.034
495
c ADM010 Adams-Oliver Syndrome 5 14 0.034
496
ALG007 Al-Gazali-Donnai-Mueller Syndrome 15 0.034
497
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 15 0.034
498
MYC060 Mycophenolate Mofetil Embryopathy 15 0.034
499
CHR382 Chromosome 18q Deletion Syndrome 15 0.034
500
XLN129 X-Linked Intellectual Disability, Armfield Type 15 0.034
501
MSC083 Muscular Pseudohypertrophy - Hypothyroidism 14 0.034
502
RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 13 0.034
503
GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 14 0.034
504
CRB056 Cerebellar Ataxia Ectodermal Dysplasia 14 0.034
505
CLF019 Cleft Palate Short Stature Vertebral Anomalies 14 0.034
506
RNL040 Renal Genital Middle Ear Anomalies 14 0.034
507
c ANT010 Anterior Compartment Syndrome 14 0.034
508
ANR012 Aniridia Absent Patella 14 0.034
509
15Q003 15q14 Microdeletion Syndrome 13 0.034
510
DST037 Distal Monosomy 9p 14 0.034
511
CNG240 Congenital Unilateral Hypoplasia of Depressor Anguli Oris 14 0.034
512
c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 14 0.034
513
INT245 Intellectual Disability - Polydactyly - Uncombable Hair 14 0.034
514
CLL022 Collins Pope Syndrome 14 0.034
515
NND005 Non-Distal Trisomy 13q 14 0.034
516
PRG024 Progeroid Syndrome Petty Type 14 0.034
517
YNG001 Young Hughes Syndrome 14 0.034
518
P BRT029 Brittle Cornea Syndrome 2 13 0.034
519
DSH001 Daish Hardman Lamont Syndrome 13 0.034
520
SBR006 Subaortic Stenosis Short Stature Syndrome 13 0.034
521
CNG235 Congenital Microgastria 13 0.034
522
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 12 0.034
523
ENC032 Encephalopathy Due to Beta-Mercaptolactate-Cysteine Disulfiduria 12 0.034
524
CNT062 Continuous Muscle Fiber Activity Hereditary 13 0.034
525
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 13 0.034
526
CND009 Conductive Deafness with Malformed External Ear 13 0.034
527
FRS008 Froster-Huch Syndrome 13 0.034
528
DST038 Distal Monosomy 7q36 13 0.034
529
6P2001 6p22 Microdeletion Syndrome 13 0.034
530
HYP478 Hyposmia - Nasal and Ocular Hypoplasia - Hypogonadotropic Hypogonadism 13 0.034
531
MLL017 Müllerian Derivatives - Lymphangiectasia - Polydactyly 13 0.034
532
THK001 Thakker-Donnai Syndrome 12 0.034
533
NTL002 Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 12 0.034
534
MDR002 Medrano Roldan Syndrome 12 0.034
535
THR017 Thoracoabdominal Syndrome 12 0.034
536
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 12 0.034
537
PLM045 Palmer Pagon Syndrome 11 0.034
538
FTL024 Fetal Minoxidil Syndrome 11 0.034
539
KRS001 Krauss Herman Holmes Syndrome 11 0.034
540
CTS024 Cutis Laxa-Marfanoid Syndrome 11 0.034
541
MCK004 Meckel's Diverticulitis 10 0.034
542
PRC041 Pericardial and Diaphragmatic Defect 8 0.034
543
CNG131 Congenital Unilateral Pulmonary Hypoplasia 8 0.034
544
GSB001 Gas Bloat Syndrome 7 0.034
545
P MYC007 Myocardial Infarction 81 0.024
546
P CSH001 Cushing's Syndrome 76 0.024
547
FBR012 Fabry Disease 76 0.024
548
HV1006 Hiv-1 83 0.024
549
P NRF002 Neurofibromatosis 69 0.024
550
P PRM002 Primary Hyperoxaluria 68 0.024
551
P NRB001 Neuroblastoma 68 0.024
552
P FRG001 Fragile X Syndrome 66 0.024
553
CRH001 Crohn's Disease 71 0.024
554
GLL008 Gilles De La Tourette Syndrome 64 0.024
555
CFF002 Coffin-Lowry Syndrome 63 0.024
556
ABT001 Abetalipoproteinemia 63 0.024
557
P AMY004 Amyloidosis 63 0.024
558
GLN010 Glanzmann Thrombasthenia 63 0.024
559
P WLM002 Wilms Tumor 70 0.024
560
BRN024 Bronchitis 62 0.024
561
c HYP595 Hypertension, Essential 66 0.024
562
ANR002 Aniridia 61 0.024
563
P HYP055 Hypoplastic Left Heart Syndrome 61 0.024
564
c CNG006 Congenital Hypothyroidism 61 0.024
565
P HMN010 Hemangioma 60 0.024
566
c HPT016 Hepatitis B 60 0.024
567
P CRN037 Craniosynostosis 60 0.024
568
P FCS002 Fucosidosis 59 0.024
569
CST001 Costello Syndrome 59 0.024
570
P CNV004 Canavan Disease 59 0.024
571
c NRF019 Neurofibromatosis, Type 2 59 0.024
572
P FCL005 Focal Segmental Glomerulosclerosis 58 0.024
573
c SYS005 Systemic Scleroderma 58 0.024
574
TWN003 Townes-Brocks Syndrome 57 0.024
575
CNT097 Central Hypoventilation Syndrome, Congenital 58 0.024
576
DFF003 Diffuse Scleroderma 57 0.024
577
PLM033 Pulmonary Embolism 56 0.024
578
P GLL020 Gallbladder Disease 56 0.024
579
LDD001 Ladd Syndrome 56 0.024
580
MXD005 Mixed Connective Tissue Disease 56 0.024
581
c DYS166 Dysautonomia, Familial 56 0.024
582
BBS001 Babesiosis 54 0.024
583
CMP002 Campylobacteriosis 54 0.024
584
BRN022 Bronchiectasis 54 0.024
585
PLY023 Polycystic Liver Disease 54 0.024
586
TYP007 Typhoid Fever 53 0.024
587
SPN027 Spinal Stenosis 53 0.024
588
P DBT005 Diabetes Insipidus 53 0.024
589
P SCK004 Seckel Syndrome 52 0.024
590
ART031 Aortic Coarctation 52 0.024
591
MCK005 Mckusick-Kaufman Syndrome 52 0.024
592
P MCK022 Meckel Syndrome 1 52 0.024
593
c ACT210 Acute Respiratory Distress Syndrome 52 0.024
594
PTN001 Patent Foramen Ovale 52 0.024
595
PLY041 Polymyositis 51 0.024
596
P STC001 Stickler Syndrome 51 0.024
597
P RBN002 Robinow Syndrome 51 0.024
598
P DBT083 Diabetes Mellitus, Permanent Neonatal 52 0.024
599
NRC020 Neuroectodermal Tumor 51 0.024
600
PRS047 Prostatitis 51 0.024
601
MBS002 Moebius Syndrome 51 0.024
602
MYC012 Mycetoma 50 0.024
603
P THR003 Thoracic Aortic Aneurysm 50 0.024
604
NRL005 Neurilemmoma 50 0.024
605
P SCK002 Sick Sinus Syndrome 50 0.024
606
WHM001 Whim Syndrome 50 0.024
607
CHL068 Cholestasis 50 0.024
608
CNN005 Connective Tissue Disease 50 0.024
609
NRN001 Neuroendocrine Carcinoma 50 0.024
610
OST017 Osteomyelitis 50 0.024
611
P MLS001 Melas Syndrome 50 0.024
612
HYP063 Hypersplenism 50 0.024
613
HMF006 Hemifacial Microsomia 50 0.024
614
P SYR001 Syringomyelia 49 0.024
615
RHB003 Rhabdomyosarcoma 49 0.024
616
EPD016 Epidermolysis Bullosa 49 0.024
617
NRF007 Neurofibroma 49 0.024
618
BRN056 Bronchopulmonary Dysplasia 49 0.024
619
P CNT061 Conotruncal Heart Malformations 49 0.024
620
BRN029 Brain Disease 49 0.024
621
LRY018 Laryngeal Squamous Cell Carcinoma 49 0.024
622
P CRV039 Cervicitis 49 0.024
623
LMT001 Limited Scleroderma 49 0.024
624
P ENC008 Encephalocele 49 0.024
625
P PLY006 Polydactyly 48 0.024
626
PYD001 Pyoderma Gangrenosum 48 0.024
627
CHL071 Child Syndrome 48 0.024
628
SNS001 Sensorineural Hearing Loss 48 0.024
629
P DND001 Dandy-Walker Syndrome 48 0.024
630
HMS001 Hemosiderosis 47 0.024
631
HYP458 Hyper Ige Syndrome 47 0.024
632
KLN001 Klinefelter's Syndrome 47 0.024
633
GST050 Gastrointestinal System Disease 47 0.024
634
LYM022 Lymphangioma 46 0.024
635
CYS002 Cystic Lymphangioma 46 0.024
636
c PND001 Pain Disorder 46 0.024
637
PRM003 Premature Ejaculation 46 0.024
638
SCH016 Schimke Immunoosseous Dysplasia 46 0.024
639
HPY002 H. Pylori Infection 46 0.024
640
ACQ007 Acquired Immunodeficiency Syndrome 46 0.024
641
P SHR001 Short Bowel Syndrome 45 0.024
642
P EPS003 Episodic Ataxia 45 0.024
643
PRC013 Pericarditis 45 0.024
644
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 45 0.024
645
PPT005 Peptic Ulcer Disease 45 0.024
646
P XRD010 Xeroderma Pigmentosum, Variant Type 45 0.024
647
YLL001 Yellow Nail Syndrome 45 0.024
648
CLR003 Clear Cell Adenocarcinoma 44 0.024
649
NRG002 Neurogenic Bladder 44 0.024
650
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 44 0.024
651
MLK003 Melkersson-Rosenthal Syndrome 44 0.024
652
GNT031 Genitopatellar Syndrome 43 0.024
653
MYC005 Myocardial Stunning 43 0.024
654
P PLG001 Pelger-Huet Anomaly 43 0.024
655
CLN015 Colon Adenocarcinoma 43 0.024
656
CYS009 Cystadenoma 43 0.024
657
P PYL005 Pyelonephritis 43 0.024
658
ADN014 Adenomatoid Tumor 43 0.024
659
MCN008 Mucinous Cystadenocarcinoma 43 0.024
660
GST027 Gastric Lymphoma 42 0.024
661
P CST002 Castleman's Disease 42 0.024
662
P NRV007 Nervous System Disease 42 0.024
663
P PLM030 Pleomorphic Rhabdomyosarcoma 42 0.024
664
c CNT035 Central Nervous System Disease 42 0.024
665
HYP005 Hypokalemia 42 0.024
666
SLR001 Sialuria 42 0.024
667
P INT060 Intestinal Atresia 42 0.024
668
KRT002 Keratomalacia 41 0.024
669
1P3001 1p36 Deletion Syndrome 41 0.024
670
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 41 0.024
671
ASP007 Aspiration Pneumonia 41 0.024
672
P CRP007 Carpenter Syndrome 41 0.024
673
P MYP006 Myopia 41 0.024
674
NRT004 Neuritis 40 0.024
675
MYX005 Myxoid Liposarcoma 40 0.024
676
P CHN014 Chondrodysplasia Punctata 41 0.024
677
CNS002 Constrictive Pericarditis 40 0.024
678
RYN003 Reynolds Syndrome 40 0.024
679
NRL018 Neural Tube Defects, Folate-Sensitive 39 0.024
680
INT046 Intestinal Tuberculosis 39 0.024
681
URT010 Ureteral Obstruction 39 0.024
682
FBR054 Fibroma 39 0.024
683
MXD032 Mixed Germ Cell Tumor 39 0.024
684
c LRG014 Large Cell Neuroendocrine Carcinoma 39 0.024
685
CRN025 Corneal Dystrophy 38 0.024
686
MLG098 Malignant Mixed Mullerian Tumor 38 0.024
687
UNL007 Unilateral Renal Agenesis 38 0.024
688
ANG054 Angina Pectoris 43 0.024
689
46X012 46,xy Partial Gonadal Dysgenesis 39 0.024
690
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 39 0.024
691
P CYS017 Cystic Teratoma 38 0.024
692
P TRC005 Tracheal Stenosis 37 0.024
693
LYM011 Lymphogranuloma Venereum 37 0.024
694
DXT001 Dextrocardia 37 0.024
695
P OPT048 Opitz-Gbbb Syndrome 37 0.024
696
THR104 Thrombophilia Due to Antithrombin Iii Deficiency 38 0.024
697
MRS004 Marshall-Smith Syndrome 37 0.024
698
P RNL059 Renal-Hepatic-Pancreatic Dysplasia 37 0.024
699
CHN015 Chondrodysplasia 37 0.024
700
RNL025 Renal Hypoplasia 36 0.024
701
P SCH017 Schindler Disease 36 0.024
702
CLF027 Cleft Palate, Isolated 36 0.024
703
TTR016 Tetra-Amelia Syndrome 36 0.024
704
c INF069 Infantile Neuroaxonal Dystrophy 1 36 0.024
705
c ACT042 Acute Pyelonephritis 36 0.024
706
c CNG216 Congenital Hydrocephalus 36 0.024
707
LPB001 Lipoblastoma 35 0.024
708
HYP143 Hypomyelination and Congenital Cataract 35 0.024
709
c MCP038 Mucopolysaccharidosis Iva 35 0.024
710
ESN020 Eosinophilic Granulomatosis with Polyangiitis 35 0.024
711
c OST037 Osteogenesis Imperfecta Type 2b 34 0.024
712
MTR010 Mature Teratoma 34 0.024
713
LRY029 Laryngomalacia 34 0.024
714
PRV003 Perivascular Epithelioid Cell Tumor 34 0.024
715
RCT011 Rectal Prolapse 34 0.024
716
P ANP022 Anophthalmia/microphthalmia 34 0.024
717
ACL001 Acalculous Cholecystitis 34 0.024
718
c RNG010 Ring Chromosome 15 33 0.024
719
CHR174 Christianson Syndrome 33 0.024
720
GNT020 Giant Congenital Nevus 34 0.024
721
BLP004 Blepharophimosis 33 0.024
722
LNS001 Lens Subluxation 33 0.024
723
DXT002 Dextrocardia with Situs Inversus 33 0.024
724
c GM1004 Gm1-Gangliosidosis, Type I 34 0.024
725
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 0.024
726
PHM001 Phimosis 32 0.024
727
SMD002 Smed Strudwick Type 33 0.024
728
ALP016 Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 32 0.024
729
ACR015 Acrocephalosyndactylia 32 0.024
730
PRT048 Partial Atrioventricular Canal 32 0.024
731
SCL017 Sclerosing Hemangioma 32 0.024
732
ZMM001 Zimmermann-Laband Syndrome 32 0.024
733
ACR058 Acrofacial Dysostosis 1, Nager Type 33 0.024
734
FCT013 Factor V Leiden Thrombophilia 31 0.024
735
P MRD002 Marden-Walker Syndrome 31 0.024
736
PRR016 Pierre Robin Syndrome 32 0.024
737
PTC002 Potocki-Lupski Syndrome 32 0.024
738
TYL002 Tylosis with Esophageal Cancer 31 0.024
739
SKL017 Skeletal Dysplasias 30 0.024
740
c PRS068 Persistent Mullerian Duct Syndrome, Type Ii 30 0.024
741
c MCP020 Mucopolysaccharidosis Type Iiic 30 0.024
742
PSL001 Pasli Disease 30 0.024
743
RTR007 Retroperitoneal Leiomyosarcoma 30 0.024
744
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 30 0.024
745
DPH019 Diaphanospondylodysostosis 30 0.024
746
c FML087 Familial Renal Cell Carcinoma 29 0.024
747
DRS004 Door Syndrome 30 0.024
748
BLR002 Bile Reflux 29 0.024
749
SPR007 Superior Mesenteric Artery Syndrome 28 0.024
750
TTL010 Total Anomalous Pulmonary Venous Return 29 0.024
751
NTR005 Nutritional Deficiency Disease 28 0.024
752
PLM018 Pulmonary Sclerosing Hemangioma 27 0.024
753
49X002 49,xxxxy Syndrome 28 0.024
754
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 27 0.024
755
c MCP023 Mucopolysaccharidosis Type Ivb 28 0.024
756
CYT004 Cytomegalic Inclusion Disease 28 0.024
757
DYS011 Dyskinesia of Esophagus 27 0.024
758
CRN048 Craniofacial-Deafness-Hand Syndrome 27 0.024
759
CNG122 Congenital Pulmonary Lymphangiectasia 27 0.024
760
EPD018 Epididymo-Orchitis 26 0.024
761
SKL007 Skeletal Muscle Regeneration 26 0.024
762
MNR004 Mounier-Kuhn Syndrome 26 0.024
763
FLT009 Folate Malabsorption, Hereditary 26 0.024
764
PLL005 Pallister-Killian Mosaic Syndrome 26 0.024
765
17Q002 17q23.1q23.2 Microdeletion Syndrome 25 0.024
766
IDP021 Idiopathic Myopathy 25 0.024
767
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 24 0.024
768
c LPD032 Lipodystrophy, Congenital Generalized, Type 1 25 0.024
769
c DNT021 Dent Disease 2 24 0.024
770
CHR281 Chronic Hiccups 25 0.024
771
ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 23 0.024
772
MYC014 Mycobacterium Chelonae 23 0.024
773
WLD003 Waldmann Disease 24 0.024
774
TBL008 Tibial Hemimelia 24 0.024
775
DFF022 Diffuse Neonatal Hemangiomatosis 24 0.024
776
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 23 0.024
777
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 23 0.024
778
HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 23 0.024
779
TRC035 Tracheal Agenesis 23 0.024
780
ALP070 Alport Syndrome - Intellectual Disability - Midface Hypoplasia - Elliptocytosis 22 0.024
781
NTR041 N-Terminal Acetyltransferase Deficiency 23 0.024
782
SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 22 0.024
783
3Q2001 3q29 Deletion Syndrome 23 0.024
784
MCR039 Macrophagic Myofasciitis 23 0.024
785
PLM049 Plummer Vinson Syndrome 23 0.024
786
LNG054 Lung Agenesis 22 0.024
787
c SPS112 Spastic Paraplegia 9, Autosomal Dominant 23 0.024
788
c OST118 Osteogenesis Imperfecta, Type Viii 23 0.024
789
CRK001 Cork-Handlers' Disease 22 0.024
790
c BRC048 Bruck Syndrome 2 21 0.024
791
CLN022 Colonic Atresia 22 0.024
792
ANR019 Anorectal Atresia 22 0.024
793
URT016 Urethral Diverticulum 21 0.024
794
ASC004 Ascending Colon Cancer 21 0.024
795
OVR047 Ovarian Cystadenocarcinoma 20 0.024
796
RGH009 Right Atrial Isomerism 20 0.024
797
ARG004 Argyria 21 0.024
798
HYP179 Hypertrichosis Congenital Generalized X-Linked 20 0.024
799
MCR073 Microgastria Limb Reduction Defect 21 0.024
800
MLL018 Miller-Dieker Lissencephaly Syndrome 21 0.024
801
c OST127 Osteogenesis Imperfecta, Type X 21 0.024
802
c ART061 Arthrogryposis, Distal, Type 2a 21 0.024
803
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 19 0.024
804
OBS063 Obesity, Morbid, Due to Leptin Deficiency 20 0.024
805
CYS015 Cystadenofibroma 19 0.024
806
CHR225 Chromosome 1q21.1 Duplication Syndrome 20 0.024
807
c THY071 Thyroid Dyshormonogenesis 1 19 0.024
808
c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 19 0.024
809
LYS013 Loeys-Dietz Syndrome, Type 4 19 0.024
810
TRN003 Transverse Colon Cancer 19 0.024
811
HMM004 Hamamy Syndrome 18 0.024
812
SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 18 0.024
813
c CRN109 Cranioectodermal Dysplasia 2 18 0.024
814
TCK002 Tick Paralysis 19 0.024
815
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 19 0.024
816
c HRD009 Hereditary Wilms' Tumor 18 0.024
817
c BNG076 Benign Exophthalmos Syndrome 19 0.024
818
c OST123 Osteogenesis Imperfecta, Type Xiii 19 0.024
819
ESN014 Eosinophilic Enteropathy 19 0.024
820
c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 19 0.024
821
c 46X001 46 Xy Gonadal Dysgenesis 18 0.024
822
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 17 0.024
823
STR029 Sternal Cleft 18 0.024
824
3MC001 3mc Syndrome 2 17 0.024
825
SPN245 Spondylocostal Dysostosis - Anal and Genitourinary Malformations 18 0.024
826
c SPS094 Spastic Paraplegia 29, Autosomal Dominant 17 0.024
827
c ADM009 Adams-Oliver Syndrome 4 16 0.024
828
VSC026 Vesiculitis 16 0.024
829
ACR045 Acro-Pectoro-Renal Field Defect 17 0.024
830
PRG023 Progeroid Short Stature with Pigmented Nevi 17 0.024
831
HCS001 Hec Syndrome 17 0.024
832
c EHL046 Ehlers-Danlos Syndrome, Musculocontractural Type 2 16 0.024
833
c 3MT005 3 Methylglutaconic Aciduria Type Iv 17 0.024
834
SHP004 Shprintzen Omphalocele Syndrome 17 0.024
835
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 16 0.024
836
MRG001 Morgagni Cataract 16 0.024
837
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 15 0.024
838
MSN003 Mesenteric Vascular Occlusion 16 0.024
839
c MCR212 Microphthalmia, Syndromic 12 15 0.024
840
14Q001 14q12 Microdeletion Syndrome 15 0.024
841
DPH021 Diaphragm Disease 16 0.024
842
GRW012 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 15 0.024
843
P PLM069 Pulmonary Venous Return Anomaly 16 0.024
844
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 15 0.024
845
ESP040 Esophageal Duplication Cyst 15 0.024
846
EHL029 Ehlers-Danlos Syndrome, Cardiac Valvular Form 14 0.024
847
c SVR048 Severe Canavan Disease 14 0.024
848
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 15 0.024
849
RMS006 Ramos-Arroyo Syndrome 15 0.024
850
GLS018 Glass Syndrome 13 0.024
851
CNG092 Congenital Extrahepatic Portosystemic Shunt 14 0.024
852
HYP230 Hypotelorism Cleft Palate Hypospadias 14 0.024
853
PRV001 Parovarian Cyst 13 0.024
854
SYR004 Syringobulbia 14 0.024
855
HNT008 Hunter Rudd Hoffmann Syndrome 14 0.024
856
16P006 16p11.2p12.2 Microdeletion Syndrome 14 0.024
857
3MC002 3mc Syndrome 1 13 0.024
858
16P003 16p13.11 Microdeletion Syndrome 13 0.024
859
PRS106 Persistence of Mullerian Derivatives with Lymphangiectasia and Postaxial Polydactyly 13 0.024
860
PLY032 Polydactyly Postaxial Dental and Vertebral 13 0.024
861
RCT033 Rectal Duplication 13 0.024
862
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 13 0.024
863
TTT001 Tatton-Brown-Rahman Syndrome 12 0.024
864
CHR367 Chromosome 7q11.23 Duplication Syndrome 13 0.024
865
c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 12 0.024
866
BNG042 Benign Multicystic Peritoneal Mesothelioma 12 0.024
867
ADN026 Adenocarcinoid Tumor 12 0.024
868
FBL005 Fibular Aplasia 11 0.024
869
INF053 Infantile Spasms Broad Thumbs 12 0.024
870
LPR004 Laparoschisis 11 0.024
871
MRL004 Morillo-Cucci-Passarge Syndrome 11 0.024
872
8Q1001 8q12 Microduplication Syndrome 11 0.024
873
CHR383 Chromosome 1p32-P31 Deletion Syndrome 10 0.024
874
RFM002 Roifman-Chitayat Syndrome 10 0.024
875
MLL008 Mullerian Agenesis 9 0.024
876
EHL011 Ehlers-Danlos Syndrome Beasley Cohen Type 9 0.024
877
CHR203 Chromosome 16p Duplication 7 0.024
878
MCH007 Meacham Winn Culler Syndrome 7 0.024
879
LPM001 Lipoma of Spermatic Cord 7 0.024
880
TTR007 Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 5 0.024